HGVS | Genome Assembly |
---|---|
NC_000017.11:g.47286403T>A , CM000679.2:g.47286403T>A | GRCh38 |
NC_000017.10:g.45363769T>A , CM000679.1:g.45363769T>A | GRCh37 |
NC_000017.9:g.42718768T>A | NCBI36 |
NG_008332.2:g.37562T>A , LRG_481:g.37562T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000696963.1:c.758T>A | ENSP00000513002.1:p.Met253Lys | |
ENST00000559488.7:c.758T>A MANE Select | ENSP00000452786.2:p.Met253Lys | |
ENST00000559488.5:c.758T>A | ENSP00000452786.1:p.Met253Lys | |
ENST00000560629.1:c.723T>A | ||
ENST00000571680.1:c.758T>A | ENSP00000461626.1:p.Met253Lys | |
NM_000212.2:c.758T>A , LRG_481t1:c.758T>A | NP_000203.2:p.Met253Lys | |
NM_000212.3:c.758T>A MANE Select | NP_000203.2:p.Met253Lys |